Variant report

Variant	nsv1017363
Chromosome Location	chr7:112904261-112946514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112940051..112941689-chr7:112965313..112967695,2	K562	blood:
2	chr7:112903603..112905709-chr7:112919936..112922248,2	K562	blood:
3	chr7:112919539..112924993-chr7:112925229..112928766,5	MCF-7	breast:
4	chr7:112902968..112904639-chr7:112919791..112922267,2	MCF-7	breast:
5	chr7:112811148..112812106-chr7:112921056..112921827,2	MCF-7	breast:
6	chr7:112655256..112655797-chr7:112929374..112930128,2	MCF-7	breast:
7	chr7:112906062..112908406-chr7:112913079..112914696,2	K562	blood:
8	chr7:112919908..112922049-chr7:112922331..112926205,3	MCF-7	breast:
9	chr7:112811150..112812144-chr7:112920712..112921503,2	MCF-7	breast:
10	chr7:112919539..112924993-chr7:112925229..112928766,5	MCF-7	breast:
11	chr7:112809313..112813953-chr7:112918870..112922668,5	MCF-7	breast:
12	chr7:112914755..112918139-chr7:112919654..112923102,3	K562	blood:
13	chr7:112919908..112922049-chr7:112922331..112926205,3	MCF-7	breast:
14	chr7:112903603..112905709-chr7:112919936..112922248,2	K562	blood:
15	chr7:112919737..112922659-chr7:112922848..112924621,2	MCF-7	breast:
16	chr7:112911185..112912742-chr7:112915427..112918300,2	K562	blood:
17	chr7:112799513..112800054-chr7:112929337..112929871,2	MCF-7	breast:
18	chr7:112887063..112887777-chr7:112921303..112922004,3	MCF-7	breast:
19	chr7:112911185..112912742-chr7:112915427..112918300,2	K562	blood:
20	chr7:112089237..112091482-chr7:112936057..112938859,2	MCF-7	breast:
21	chr7:112906005..112908006-chr7:112910862..112913062,2	K562	blood:
22	chr7:112934260..112936230-chr7:112936620..112938273,2	MCF-7	breast:
23	chr7:112919737..112922659-chr7:112922848..112924621,2	MCF-7	breast:
24	chr7:112934260..112936230-chr7:112936620..112938273,2	MCF-7	breast:
25	chr7:112906005..112908006-chr7:112910862..112913062,2	K562	blood:
26	chr6:73399794..73402765-chr7:112924925..112927140,2	MCF-7	breast:
27	chr7:112914755..112918139-chr7:112919654..112923102,3	K562	blood:
28	chr7:112906062..112908406-chr7:112913079..112914696,2	K562	blood:
29	chr7:112902968..112904639-chr7:112919791..112922267,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000006652	chromatin interactions

Extended variants
information (count: 779 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193079533	chr7:112904277-112904278	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184436820	chr7:112904343-112904344	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186913600	chr7:112904360-112904361	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569464825	chr7:112904383-112904384	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191756414	chr7:112904403-112904404	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183492655	chr7:112904408-112904409	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573662665	chr7:112904472-112904473	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142927250	chr7:112904507-112904508	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551154966	chr7:112904510-112904511	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138961926	chr7:112904516-112904517	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565625385	chr7:112904550-112904551	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530462032	chr7:112904575-112904576	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189476711	chr7:112904583-112904584	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566902042	chr7:112904592-112904593	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534209347	chr7:112904597-112904598	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552670673	chr7:112904611-112904612	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs553252767	chr7:112904651-112904652	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs570969235	chr7:112904692-112904693	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs117943583	chr7:112904747-112904748	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs192504069	chr7:112904751-112904752	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs575440107	chr7:112904754-112904755	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs185640931	chr7:112904771-112904772	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs554464237	chr7:112904794-112904795	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs116167448	chr7:112904809-112904810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190512704	chr7:112904817-112904818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564589402	chr7:112904829-112904830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545356112	chr7:112904830-112904831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372924828	chr7:112904839-112904840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112394783	chr7:112904861-112904862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544467687	chr7:112904878-112904879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181520799	chr7:112904909-112904910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186177722	chr7:112904922-112904923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548838293	chr7:112904955-112904956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527647142	chr7:112904971-112904972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116073110	chr7:112906895-112906896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192657208	chr7:112906921-112906922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7459153	chr7:112906930-112906931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184448750	chr7:112906935-112906936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554385508	chr7:112906994-112906995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190522720	chr7:112907053-112907054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370764932	chr7:112907092-112907093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192565940	chr7:112907093-112907094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374211747	chr7:112907119-112907120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575460660	chr7:112907130-112907131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184375671	chr7:112907163-112907164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543788699	chr7:112907195-112907196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189079848	chr7:112907239-112907240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544550188	chr7:112907295-112907296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529323764	chr7:112907345-112907346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541101719	chr7:112907361-112907362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112902200-112905000	Weak transcription	Right Atrium	heart
2	chr7:112903200-112904600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:112903600-112904800	Active TSS	K562	blood
4	chr7:112903800-112904400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:112906800-112907000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:112907000-112908400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:112907200-112908000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:112907600-112908000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:112907600-112908000	Enhancers	Osteobl	bone
10	chr7:112907800-112909600	ZNF genes & repeats	K562	blood
11	chr7:112908400-112909400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:112910800-112912400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:112917600-112917800	Enhancers	Fetal Heart	heart
14	chr7:112917800-112918600	Weak transcription	Fetal Heart	heart
15	chr7:112918600-112921400	Enhancers	Fetal Heart	heart
16	chr7:112918800-112919400	Enhancers	Colon Smooth Muscle	Colon
17	chr7:112919000-112919600	Enhancers	Rectal Smooth Muscle	rectum
18	chr7:112919200-112919600	Enhancers	Fetal Brain Male	brain
19	chr7:112919200-112919600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:112919600-112923200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:112921400-112923400	Weak transcription	Fetal Heart	heart
22	chr7:112923200-112923600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr7:112923400-112924200	Enhancers	Fetal Heart	heart
24	chr7:112923600-112924400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:112923600-112926600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:112923800-112924200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:112924200-112924400	Enhancers	Osteobl	bone
28	chr7:112924200-112924600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:112924200-112924800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:112924400-112925400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:112924400-112925400	Weak transcription	Osteobl	bone
32	chr7:112924600-112926000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:112924800-112925200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:112925200-112926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:112925400-112926000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:112925400-112926200	Enhancers	Osteobl	bone
37	chr7:112929400-112929600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:112931200-112931800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:112931200-112932000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:112931400-112931600	Enhancers	Esophagus	oesophagus
41	chr7:112931800-112932000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:112932000-112932400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:112932200-112932400	Enhancers	Esophagus	oesophagus
44	chr7:112932200-112932600	Enhancers	Adipose Nuclei	Adipose
45	chr7:112932200-112932800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:112932400-112932600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:112932600-112934400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:112934400-112935200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:112935000-112935600	ZNF genes & repeats	Esophagus	oesophagus
50	chr7:112946200-112946800	Active TSS	K562	blood

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